Description
Product Characteristics:
The repulsive guidance molecule (RGM) family of proteins are important in the guidance of growth cones of developing neurons. They are repulsive for a group of axons, those from the temporal half of the retina. RGM have been implicated in both axonal guidance and neural tube closure but as opposed to for ephrins, semaphorins, netrins and slits, no receptor mechanism for RGM activation has been defined. Dorsal root ganglion axons do not respond to RGM but neogenin (a netrin-binding protein which can function as an RGM receptor) expression can spur RGM responsiveness. The RGM proteins are attached to the membrane by a GPI-anchor. Two members of this family, RGMa and RGMb, are expressed in the nervous system. RGMc, also known as Hemojuvelin, is a part of the signaling pathway activating hepcidin and works together with hepcidin to restrict iron absorption in the gut. Defects in the gene encoding for RGMc causes the autosomal recessive disorder juvenile hemochromatosis (JH).
Subcellular location: Cell membrane
Synonyms: DL M, Haemojuvelin, HEMOCHROMATOSIS, HEMOCHROMATOSIS DUE TO DEFECT IN HEMOJUVELIN, HEMOCHROMATOSIS DUE TO DEFECT IN HEPCIDIN ANTIMICROBIAL PEPTIDE, HEMOCHROMATOSIS JUVENILE, Hemochromatosis type 2 juvenile, Hemochromatosis type 2, Hemochromatosis type 2 protein, Hemochromatosis type 2 protein homolog, HEMOCHROMATOSIS, TYPE 2A, HEMOCHROMATOSIS, TYPE 2B, Hemojuvelin, HFE 2, Hfe2, HFE2A, HJV, JH, Juvenile, MGC23953, Repulsive guidance molecule c, RGM C, RGM domain family member C, RGMC, RGMC_HUMAN.
Target Information: The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. [provided by RefSeq, Jul 2008]